Results 121 to 130 of about 92,072 (315)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report

Journal of Medical Case Reports
Background Say–Barber–Biesecker–Young–Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial ...
Behzad Davarnia, Mohammad Panahi, Bahareh Rahimi, Hassan Anari, Reza Farajollahi, Ehsan Abbaspour Rodbaneh, Farhad Jeddi   +6 more
doaj   +1 more source

Identification of SUZ12 Haploinsufficiency due to a 1.4-Mb Deletion at 17q11.2 in a Child With Overgrowth and Intellectual Disability Syndrome. [PDF]

Ann Lab Med, 2023
Park S, Jang MA.
europepmc   +1 more source

A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome

, 2011
Background Psychological tests can be useful to record adaptive and maladaptive behaviours of children with intellectual disability. The objective of this study was to describe the adaptive and maladaptive behaviour of children and adolescents with Cri ...
ORSATI, F. T., TEIXEIRA, M. C. T. V., GATTO, K. R., RIMERIO, R. C., EMERICH, D. R., KIM, C. A., CHAPPAZ, I. O.   +6 more
core   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Perception of four intellectual and developmental disabilities based on search engine and news portrayal.

PLoS ONE
BackgroundFor people with intellectual and developmental disabilities, other's perceptions of them based on their condition often begin before birth and go on to impact relationships, opportunities, and self perception across the life course.
Lillian J Droscha, Sophia Chung, Zoe Li-Khan, Ashley Scott, Eric Rubenstein   +4 more
doaj   +1 more source

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. [PDF]

Clin Genet, 2023
Elbendary HM, Marafi D, Saad AK, Elhossini R, Duan R, Rafat K, Jhangiani SN, Gibbs RA, Pehlivan D, Calame DG, Posey JE, Lupski JR, Zaki MS.   +12 more
europepmc   +1 more source

Deficiência intelectual familial na Grande Florianópolis: epidemiologia e investigação de casos selecionados [PDF]

, 2014
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduação em Biologia Celular e do Desenvolvimento, Florianópolis, 2014.A deficiência intelectual (DI) afeta cerca de 1 a 3% da população ...
Oliveira, Luan Freitas de
core  

Overweight and Obesity Among Adults With Intellectual Disabilities Who Use Intellectual Disability/Developmental Disability Services in 20 U.S. States

, 2011
The authors compare the prevalence of obesity for National Core Indicators (NCI) survey participants with intellectual disability and the general U.S. adult population.
Sheryl Larson, Joshua Engler, Julie Bershadsky, Renata Ticha, Jon Fortune, K. Charlie Lakin, Sarah Taub, Roger J Stancliffe   +7 more
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source